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BIGwas: Single-command quality control and association testing for multi-cohort and biobank-scale GWAS/PheWAS data.

Jan Christian KässensLars WienbrandtDavid Ellinghaus
Published in: GigaScience (2022)
Researchers without extensive bioinformatics knowledge and with few computer resources can use BIGwas to perform multi-cohort GWAS with 1 million GWAS samples and, if desired, use it to build their own (genome-wide) PheWAS resource. BIGwas is freely available for download from http://github.com/ikmb/gwas-qc and http://github.com/ikmb/gwas-assoc.
Keyphrases
  • quality control
  • genome wide
  • healthcare
  • genome wide association study
  • dna methylation
  • electronic health record
  • deep learning
  • big data
  • copy number